| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000289004 |
| Start |
121856361:121856361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375336061
|
| CDS Mutation |
c.287T>C |
| AA Mutation |
p.Ile96Thr(p.I96T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000289004 |
| Start |
121847138:121847138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765923504
|
| CDS Mutation |
c.673C>T |
| AA Mutation |
p.Arg225Ter(p.R225*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000289004 |
| Start |
121856626:121856626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.199-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |